1. Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis.
- Author
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Do MD, Pham DV, Le LP, Gia Le LH, Minh Tran LB, Dang Huynh MD, Do QM, Vu HA, Nguyen NH, and Mai TP
- Subjects
- Adult, Alleles, Amino Acid Substitution, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Testing, Genotype, Humans, Male, Middle Aged, Models, Molecular, Polymerase Chain Reaction, Population Surveillance, Prognosis, Protein C chemistry, Protein Conformation, Protein S chemistry, Structure-Activity Relationship, Venous Thrombosis diagnosis, Vietnam epidemiology, Genetic Predisposition to Disease, Mutation, Protein C genetics, Protein S genetics, Venous Thrombosis epidemiology, Venous Thrombosis genetics
- Abstract
Introduction: Genetic mutations of PROC and PROS1 are well-known risk factors for deep venous thrombosis (DVT) in the Asian population. However, the genetic profile of Vietnamese patients with DVT remains elusive. This study aimed to investigate the spectrum of genetic mutations of these two genes in Vietnamese patients diagnosed with idiopathic DVT., Materials and Methods: A total of 50 Vietnamese patients diagnosed with idiopathic DVT were recruited in this study. The entire coding regions of the protein C and protein S genes were amplified and directly sequenced to determine genetic alterations., Results: Four and six genetic mutations were detected in protein C and protein S genes, respectively, in 24 Vietnamese DVT patients. PROC c.565C > T (p.R189W) was the most common mutation found in 13 out of 50 patients, while the mutations of PROS1 comprised three missense and three nonsense variants which diffuse along the gene., Conclusions: This study shows that mutations of protein C and protein S genes are prevalent in Vietnamese patients diagnosed with idiopathic DVT, and PROC c.565C > T (p.R189W) was the most common genetic alteration., (© 2020 John Wiley & Sons Ltd.)
- Published
- 2021
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